The Gene Machine

World First Whole Genome Sequencing Of Heart Diseases

5 August 2016

• The first time scientists sequenced the entire genetic make-up of a human it took them 12 years and cost $3.2 billion (completed in 2003).
• Now it costs as little as $1,000 (USD) to sequence a human’s genome using the HiSeq X Ten machine.
• The new Gene Machine can sequence 350 human genomes per week

The world is about to witness a paradigm shift in genetic research and the Victor Chang Cardiac Research Institute is at the forefront. Working in collaboration with our colleagues at the Garvan Institute of Medical Research, our scientists now have access to a $10million ‘Gene Machine’ which is revolutionising the way they conduct research. The HiSeq X Ten Sequencing System is one of the most powerful of its kind ever invented and will allow researchers to undertake studies of unprecedented scale for a fraction of the cost. This incredible advance in technology will enable the Victor Chang Institute to do something that has never been possible before. Our scientists will now be able to screen 100% of the human genome – analysing every single gene and every single strand of DNA, leaving no stone unturned

The Victor Chang Cardiac Research Institute is the first in the world to use this technology to analyse the entire genetic make-up of babies born with heart defects and patients suffering from dilated cardiomyopathy (DCM). The impact of this will be enormous. We believe genetic research will uncover the causes of these horrible diseases. This promises far more answers for the parents of a sick baby and for struggling patients aching to find out what went wrong. Doctors will also be able to tell families the likelihood of having a second baby with a heart problem. But most importantly, scientists will develop better treatments, bringing us a step closer to the ultimate goal - prevention.

Whole-genome sequencing now enables researchers to look at a person’s entire genetic make-up in a single test. This will change the global landscape for clinical practice and for genetics research. Now there’s the potential for every Australian to have their genome sequenced, and in the near future, genetic testing could become part of every person’s routine check-up when they visit the GP. Patients could be diagnosed more quickly, treated faster and more accurately.

The overall aim is to find the particular genetic mutation in every family so we can identify who is at risk ahead of time. Imagine if doctors could start treating patients even before they show any symptoms at the very first sign of disease, rather than waiting until their condition is severe and the patient has missed the boat. It could be the difference between living a healthier life or facing expensive medical bills and even a heart transplant.